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Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low, K J; Stals, K; Caswell, R; Wakeling, M; Clayton-Smith, J; Donaldson, A; Foulds, N; Norman, A; Splitt, M; Urankar, K; Vijayakumar, K; Majumdar, A; Study, Ddd; Ellard, S; Smithson, S F.
Affiliation
  • Low KJ; Department of Clinical Genetics, St Michaels Hospital, Bristol, UK.
  • Stals K; School of Clinical Sciences, University of Bristol, Bristol, UK.
  • Caswell R; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Wakeling M; Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Clayton-Smith J; Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Donaldson A; Manchester Centre for Genomic Medicine, St Marys' Hospital, Manchester, UK.
  • Foulds N; Institute of Human Development, University of Manchester, Manchester, UK.
  • Norman A; Department of Clinical Genetics, St Michaels Hospital, Bristol, UK.
  • Splitt M; Wessex Clinical Genetics Service, Southampton, UK.
  • Urankar K; Department of Clinical Genetics, St Michaels Hospital, Bristol, UK.
  • Vijayakumar K; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, UK.
  • Majumdar A; Department of Neuropathology, North Bristol NHS Trust, Bristol, UK.
  • Study D; Paediatric Neuromuscular Service, Bristol Royal Hospital for Children, Bristol, UK.
  • Ellard S; Paediatric Neuromuscular Service, Bristol Royal Hospital for Children, Bristol, UK.
  • Smithson SF; Wellcome Trust Sanger Institute, Cambridge, UK.
Eur J Hum Genet ; 26(6): 796-807, 2018 06.
Article in En | MEDLINE | ID: mdl-29511323
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Cell Adhesion Molecules, Neuronal / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Cell Adhesion Molecules, Neuronal / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: